Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs398122800 | 1.000 | 0.120 | 2 | 201209189 | frameshift variant | -/A | ins | 1 | |||
rs1131691014 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 214 | |||
rs80359306 | 0.827 | 0.280 | 13 | 32333284 | frameshift variant | A/-;AA | delins | 6 | |||
rs144848 | 0.653 | 0.440 | 13 | 32332592 | missense variant | A/C | snv | 0.28 | 0.23 | 29 | |
rs2239704 | 0.732 | 0.320 | 6 | 31572364 | 5 prime UTR variant | A/C | snv | 0.64 | 17 | ||
rs1057519909 | 0.790 | 0.240 | 15 | 66435116 | missense variant | A/C | snv | 7 | |||
rs1801274 | 0.597 | 0.800 | 1 | 161509955 | missense variant | A/C;G | snv | 4.0E-06; 0.48 | 46 | ||
rs1057520001 | 0.677 | 0.360 | 17 | 7674886 | missense variant | A/C;G | snv | 23 | |||
rs1057520002 | 0.695 | 0.360 | 17 | 7674242 | missense variant | A/C;G | snv | 20 | |||
rs750664148 | 0.851 | 0.200 | 8 | 127738434 | missense variant | A/C;G | snv | 5 | |||
rs854560 | 0.513 | 0.800 | 7 | 95316772 | missense variant | A/C;G;N;T | snv | 0.29 | 113 | ||
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs1805087 | 0.496 | 0.800 | 1 | 236885200 | missense variant | A/G | snv | 0.20 | 0.21 | 135 | |
rs1800871 | 0.508 | 0.800 | 1 | 206773289 | 5 prime UTR variant | A/G | snv | 0.69 | 108 | ||
rs1136410 | 0.559 | 0.760 | 1 | 226367601 | missense variant | A/G | snv | 0.21 | 0.15 | 70 | |
rs5743836 | 0.658 | 0.440 | 3 | 52226766 | intron variant | A/G | snv | 0.20 | 31 | ||
rs2305160 | 0.776 | 0.200 | 2 | 100974842 | missense variant | A/G | snv | 0.71 | 0.75 | 9 | |
rs1023835002 | 0.763 | 0.280 | 15 | 44711547 | start lost | A/G;T | snv | 10 | |||
rs267601395 | 0.925 | 0.160 | 7 | 148811636 | missense variant | A/G;T | snv | 7 | |||
rs1800890 | 0.658 | 0.400 | 1 | 206776020 | intron variant | A/T | snv | 0.32 | 29 | ||
rs2070673 | 0.827 | 0.160 | 10 | 133527063 | non coding transcript exon variant | A/T | snv | 0.67 | 5 | ||
rs1353759920 | 0.851 | 0.120 | 1 | 3707593 | missense variant | C/A | snv | 2.1E-05 | 4 | ||
rs4245739 | 0.708 | 0.360 | 1 | 204549714 | 3 prime UTR variant | C/A;G | snv | 0.77; 6.2E-06 | 21 | ||
rs121913355 | 0.641 | 0.520 | 7 | 140781602 | missense variant | C/A;G;T | snv | 4.0E-06 | 42 | ||
rs121434596 | 0.677 | 0.440 | 1 | 114716123 | missense variant | C/A;G;T | snv | 4.0E-06; 4.0E-06 | 26 |